PDK3

Summary

PDK3 (pyruvate dehydrogenase kinase 3, HGNC:8811) is a protein-coding gene on chromosome Xp22.11, encoding [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial (Q15120). Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration.

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 5165 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease X-linked dominant 6 (Definitive, ClinGen)
• GWAS associations: 3
• Clinical variants (ClinVar): 314 total (top 10% of genes corpus-wide)
• GTEx eGene: eQTL in 29 tissues, sQTL in 2 (q < 0.05)
• Phenotypes (HPO): 27
• Drug target: yes — 1 via a complex or family
• MANE Select transcript: NM_005391

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8811
Approved symbol	PDK3
Name	pyruvate dehydrogenase kinase 3
Location	Xp22.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000067992
Ensembl biotype	protein_coding
OMIM	300906
Entrez	5165

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 10 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron

MANE Select: ENST00000379162

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 5: 1

ENST00000379162, ENST00000493226, ENST00000568479, ENST00000648777, ENST00000688031, ENST00000688551, ENST00000862654, ENST00000930024, ENST00000995662, ENST00000995663, ENST00000995664, ENST00000995665, ENST00001033854, ENST00001079582, ENST00001114663, ENST00001122198, ENST00001136447

RefSeq mRNA: 2 — MANE Select: NM_005391 NM_001142386, NM_005391

CCDS: CCDS14212, CCDS48088

Canonical transcript exons

ENST00000379162 — 11 exons

Exon	Start	End
ENSE00000370908	24527574	24527675
ENSE00000370910	24531657	24531770
ENSE00000667142	24498829	24498900
ENSE00000667143	24503327	24503511
ENSE00000667144	24505209	24505298
ENSE00000667146	24526198	24526274
ENSE00000667176	24528076	24528186
ENSE00000863221	24494742	24494883
ENSE00001259254	24518933	24519010
ENSE00001857428	24533929	24534422
ENSE00003844616	24465286	24465561

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 98.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.5172 / max 504.7009, expressed in 1717 samples.

Highest expression (Bgee): middle temporal gyrus, Brodmann (1909) area 23, corpus epididymis, saphenous vein, lateral nuclear group of thalamus.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PDK3 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 29 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 31 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	6.9e-23	+0.29	X:24532244:C:T
Artery Tibial	eqtl	1.5e-21	-0.11	X:24565676:G:A
Muscle Skeletal	eqtl	6.2e-20	+0.23	X:24464841:C:T
Cells EBV-transformed lymphocytes	eqtl	1.8e-19	+0.32	X:24532244:C:T
Testis	eqtl	5.1e-18	-0.17	X:24429038:T:G
Liver	eqtl	8.5e-14	-0.33	X:24465826:G:C
Whole Blood	eqtl	6.6e-08	+0.27	X:24466011:GGTGTTGCT:G
Adipose Subcutaneous	eqtl	2.8e-06	+0.12	X:24485522:G:A
Brain Cerebellum	eqtl	4.5e-06	+0.24	X:24493349:GA:G
Esophagus Muscularis	eqtl	1.6e-05	+0.63	X:24367625:C:A
Brain Frontal Cortex BA9	eqtl	2.4e-05	+0.16	X:24389054:C:T
Nerve Tibial	eqtl	3.5e-05	+0.11	X:24537750:G:A
Esophagus Mucosa	eqtl	4.0e-05	-0.12	X:24391394:A:G
Heart Left Ventricle	eqtl	8.2e-05	+0.13	X:24490487:A:G
Testis	sqtl	9.7e-05	-0.29	X:24465826:G:C
Prostate	eqtl	1.3e-04	+0.19	X:24476473:C:T
Brain Cortex	eqtl	2.7e-04	+0.09	X:24497505:T:C
Ovary	eqtl	5.6e-04	-0.54	X:24434204:G:A
Brain Nucleus accumbens basal ganglia	eqtl	6.1e-04	+0.10	X:24465826:G:C
Colon Sigmoid	eqtl	1.5e-03	-0.08	X:24560686:C:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
195798	22.5172	1717

Top tissues by expression

showing 100 of 288 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	98.76	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.69	gold quality
corpus epididymis	UBERON:0004359	98.07	gold quality
saphenous vein	UBERON:0007318	97.33	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.11	gold quality
upper leg skin	UBERON:0004262	97.04	gold quality
caput epididymis	UBERON:0004358	96.88	gold quality
jejunal mucosa	UBERON:0000399	96.73	gold quality
endothelial cell	CL:0000115	96.59	gold quality
parotid gland	UBERON:0001831	96.33	gold quality
tibia	UBERON:0000979	95.66	gold quality
skin of hip	UBERON:0001554	95.59	gold quality
parietal lobe	UBERON:0001872	95.41	gold quality
postcentral gyrus	UBERON:0002581	95.33	gold quality
pons	UBERON:0000988	95.07	gold quality
visceral pleura	UBERON:0002401	95.01	gold quality
superficial temporal artery	UBERON:0001614	94.37	gold quality
entorhinal cortex	UBERON:0002728	94.36	gold quality
renal medulla	UBERON:0000362	94.25	gold quality
dorsal root ganglion	UBERON:0000044	94.07	gold quality
gingival epithelium	UBERON:0001949	93.85	gold quality
mammary duct	UBERON:0001765	93.81	gold quality
trigeminal ganglion	UBERON:0001675	93.77	gold quality
germinal epithelium of ovary	UBERON:0001304	93.67	gold quality
vena cava	UBERON:0004087	93.47	gold quality
pleura	UBERON:0000977	93.41	gold quality
parietal pleura	UBERON:0002400	93.38	gold quality
trabecular bone tissue	UBERON:0002483	93.35	gold quality
gingiva	UBERON:0001828	93.23	gold quality
cauda epididymis	UBERON:0004360	93.03	gold quality
synovial joint	UBERON:0002217	92.70	gold quality
superior frontal gyrus	UBERON:0002661	92.68	gold quality
superior vestibular nucleus	UBERON:0007227	92.42	gold quality
palpebral conjunctiva	UBERON:0001812	92.38	gold quality
sperm	CL:0000019	92.34	gold quality
tendon of biceps brachii	UBERON:0008188	92.29	gold quality
epithelium of nasopharynx	UBERON:0001951	92.10	gold quality
popliteal artery	UBERON:0002250	92.02	gold quality
tibial artery	UBERON:0007610	92.00	gold quality
urethra	UBERON:0000057	91.99	gold quality
epithelium of mammary gland	UBERON:0003244	91.66	gold quality
substantia nigra pars compacta	UBERON:0001965	91.60	gold quality
lateral globus pallidus	UBERON:0002476	91.10	gold quality
nipple	UBERON:0002030	90.95	gold quality
cardia of stomach	UBERON:0001162	90.90	gold quality
jejunum	UBERON:0002115	90.69	gold quality
aorta	UBERON:0000947	90.36	gold quality
pigmented layer of retina	UBERON:0001782	89.96	gold quality
male germ cell	CL:0000015	89.93	gold quality
substantia nigra pars reticulata	UBERON:0001966	89.93	gold quality
pericardium	UBERON:0002407	89.86	gold quality
superior surface of tongue	UBERON:0007371	89.85	gold quality
cartilage tissue	UBERON:0002418	89.84	gold quality
pylorus	UBERON:0001166	89.78	gold quality
descending thoracic aorta	UBERON:0002345	89.73	gold quality
colonic mucosa	UBERON:0000317	89.36	gold quality
ventral tegmental area	UBERON:0002691	89.25	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.25	gold quality
ileal mucosa	UBERON:0000331	88.90	gold quality
mammalian vulva	UBERON:0000997	88.79	gold quality
mammary gland	UBERON:0001911	88.60	gold quality
thoracic mammary gland	UBERON:0005200	88.49	gold quality
adult organism	UBERON:0007023	88.42	gold quality
seminal vesicle	UBERON:0000998	88.41	gold quality
calcaneal tendon	UBERON:0003701	88.41	gold quality
blood	UBERON:0000178	88.18	gold quality
dorsal plus ventral thalamus	UBERON:0001897	88.16	gold quality
thoracic aorta	UBERON:0001515	88.05	gold quality
tendon	UBERON:0000043	88.00	gold quality
oral cavity	UBERON:0000167	87.82	gold quality
ascending aorta	UBERON:0001496	87.76	gold quality
subthalamic nucleus	UBERON:0001906	87.76	gold quality
inferior vagus X ganglion	UBERON:0005363	87.63	gold quality
penis	UBERON:0000989	87.13	gold quality
occipital lobe	UBERON:0002021	87.07	gold quality
duodenum	UBERON:0002114	86.93	gold quality
trachea	UBERON:0003126	86.65	gold quality
primary visual cortex	UBERON:0002436	86.40	gold quality
esophagus squamous epithelium	UBERON:0006920	86.36	gold quality
coronary artery	UBERON:0001621	86.21	gold quality
right coronary artery	UBERON:0001625	86.05	gold quality
tonsil	UBERON:0002372	85.73	gold quality
left coronary artery	UBERON:0001626	85.69	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.31	gold quality
islet of Langerhans	UBERON:0000006	85.21	gold quality
bronchial epithelial cell	CL:0002328	85.06	gold quality
bone marrow	UBERON:0002371	84.90	gold quality
colonic epithelium	UBERON:0000397	84.88	gold quality
tongue	UBERON:0001723	84.80	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.97	gold quality
pharyngeal mucosa	UBERON:0000355	83.94	gold quality
medulla oblongata	UBERON:0001896	83.86	gold quality
monocyte	CL:0000576	83.72	gold quality
mononuclear cell	CL:0000842	83.60	gold quality
mucosa of stomach	UBERON:0001199	83.58	gold quality
leukocyte	CL:0000738	83.50	gold quality
body of tongue	UBERON:0011876	83.35	silver quality
heart right ventricle	UBERON:0002080	83.09	gold quality
lower lobe of lung	UBERON:0008949	82.73	gold quality
sigmoid colon	UBERON:0001159	82.36	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-81547	yes	27.06
E-MTAB-5061	yes	26.61
E-GEOD-83139	yes	9.07
E-MTAB-6379	no	750.83
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 77 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Caudate putamen	tissue	39.0
Cerebral cortex	tissue	36.5	medium
Occipital cortex	tissue	36.5
Somatosensory cortex	tissue	36.2
Postcentral gyrus	tissue	31.8
Hippocampal formation	tissue	30.0
Entorhinal cortex	tissue	30.0
Hippocampus	tissue	29.9	medium
Olfactory bulb	tissue	29.1
Superior colliculi	tissue	27.9
Temporal cortex	tissue	27.6
Frontal cortex	tissue	27.5
Prefrontal cortex	tissue	26.1
Retrosplenial and cingulate cortex	tissue	26.0
Putamen	tissue	25.9
Motor cortex	tissue	25.5
Thalamus	tissue	25.4
Spinal cord	tissue	25.2
Retrosplenial cortex	tissue	24.4
Pons	tissue	24.1
Insular cortex	tissue	24.0
Midbrain	tissue	23.6
Basal ganglia	tissue	22.3	low
Choroid plexus	tissue	20.8
Medulla oblongata	tissue	20.3
Locus coeruleus	tissue	20.3
Ventral forebrain	tissue	20.3
Cerebellum	tissue	20.1	not detected
Amygdala	tissue	19.8
Hypothalamus	tissue	19.5
Substantia nigra	tissue	19.0
Septum	tissue	19.0
Periaqueductal gray	tissue	18.9
Nucleus accumbens	tissue	16.7
Corpus callosum	tissue	10.6
Salivary gland	tissue	10.3	not detected
Epididymis	tissue	10.1	low
Testis	tissue	9.0	low
Breast	tissue	8.1	low
Kidney	tissue	8.1	low
Bone marrow	tissue	7.9	low
Small intestine	tissue	7.7	low
Duodenum	tissue	7.6	medium
Tonsil	tissue	7.4	medium
Lymph node	tissue	7.2	not detected
Stomach 1	tissue	6.4	low
Parathyroid gland	tissue	6.2	not detected
Spleen	tissue	6.2	not detected
Heart muscle	tissue	5.8	not detected
Thymus	tissue	5.7
Retina	tissue	5.4
Colon	tissue	5.2	not detected
Appendix	tissue	5.2	low
Rectum	tissue	4.8	low
Pituitary gland	tissue	4.6
Lung	tissue	4.3	medium
Liver	tissue	4.3	medium
Prostate	tissue	4.2	medium
Smooth muscle	tissue	4.1	not detected
Urinary bladder	tissue	3.8	not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Hippocampus, CA1 (43.0), Habenula (35.2), Hippocampus, CA2 (34.5), Blood vessel (33.6), Dentate gyrus (32.4).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HIF1A, PPARA

miRNA regulators (miRDB)

Targeting PDK3 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

23 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-1224-5P	99.48	65.59	803
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-654-3P	98.38	67.61	905
HSA-MIR-2355-3P	96.84	68.54	909
HSA-MIR-4714-3P	96.53	67.44	452

Functional genomics

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000379162 — one region, missense o/e 0.59.

Literature-anchored findings (GeneRIF, showing 18)

• mRNA levels not changed in skeletal muscle during fasting (PMID:14966024)
• analysis of residues in L2 and residues in the C-terminal region and the lipoyl-binding pocket of PDK3 which are critical determinants for the cross-talk between L2 and PDK3, which up-regulates PDK3 activity (PMID:16849321)
• crystal structure of the asymmetric PDHK3/lipoyl domain 2 complex; data suggest that the asymmetric complex represents a physiological state in which binding of a single L2-domain activates one of the PDHK protomers while inactivating another (PMID:17532006)
• PDK2, PDK3 and PDK4 are primary PPARbeta/delta target genes in humans underlining the importance of the receptor in the control of metabolism (PMID:17669420)
• Distinct structural mechanisms for inhibition of PDK3 by AZD7545, dichloroacetate, and radicol. (PMID:17683942)
• increased PDK3 expression due to elevated HIF-1alpha in cancer cells may play critical roles in metabolic switch during cancer progression and chemoresistance in cancer therapy (PMID:18718909)
• Findings suggest the HIF-1/PDK3 bioenergetic pathway as a new target for therapeutic intervention in metastatic melanoma. (PMID:22865452)
• Reduced pyruvate flux due to R158H mutant PDK3-mediated hyper-phosphorylation of the pyruvate dehydrogenase complex is the underlying pathogenic cause of peripheral neuropathy in X-linked dominant Charcot-Marie-Tooth disease. (PMID:23297365)
• Accordingly, elevated levels of PDK1, PDK3, and PKM2 and reduced PK activity could be observed in iPSCs and human embryonic stem cells in the undifferentiated state (PMID:24123565)
• We have identified a p.R158H PDK3 mutation in a Korean X-linked dominant Charcot-Marie-Tooth type 6 family (PMID:26801680)
• The pyruvate dehydrogenase kinases (PDKs) PDK1 and PDK3 are direct targets of KDM4A and E2F1 and modulate the switch between glycolytic metabolism and mitochondrial oxidation. (PMID:27626669)
• Overexpression of PDK2 and PDK3 reflects poor prognosis in acute myeloid leukemia. (PMID:30578412)
• PDK3 forms a positive feedback loop with HSF1 to drive glycolysis in chemoresistance. (PMID:31244938)
• miR-497-5p inhibits gastric cancer cell proliferation and growth through targeting PDK3. (PMID:31409724)
• Effect of pH on the structure and function of pyruvate dehydrogenase kinase 3: Combined spectroscopic and MD simulation studies. (PMID:31982536)
• Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation. (PMID:32504000)
• Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model. (PMID:34387338)
• Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families. (PMID:37849068)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pdk3a	ENSDARG00000014527
danio_rerio	pdk3b	ENSDARG00000099791
mus_musculus	Pdk3	ENSMUSG00000035232
rattus_norvegicus	Pdk3	ENSRNOG00000012513
drosophila_melanogaster	Pdk	FBGN0017558
caenorhabditis_elegans		WBGENE00022719

Paralogs (4): PDK4 (ENSG00000004799), PDK2 (ENSG00000005882), BCKDK (ENSG00000103507), PDK1 (ENSG00000152256)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Staphylococcus epidermidis RP62A	Q5HK19	100.0%	Diamond
Staphylococcus epidermidis ATCC 12228	Q8CU87	100.0%	Diamond
Rhinolophus ferrumequinum	Q1KMR4	93.6%	Diamond
Staphylococcus haemolyticus JCSC1435	Q4LAJ8	93.2%	Diamond
Ictidomys tridecemlineatus	O88345	92.2%	Diamond
Ascaris suum	O02623	78.8%	Diamond
Arabidopsis thaliana	Q9SBJ1	41.8%	Diamond
Schizosaccharomyces pombe 972h-	Q9P6P9	38.2%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ZFX-AS1	ncRNA	100873922
SUPT20HL2	protein-coding	170067
ZFX	protein-coding	7543
PCYT1B	protein-coding	9468
SUPT20HL1	protein-coding	100130302
PCYT1B-AS1	ncRNA	100874088
POLA1	protein-coding	5422
SCARNA23	ncRNA	677773

Protein

Protein identifiers

[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial — Q15120 (reviewed: Q15120)

Alternative names: Pyruvate dehydrogenase kinase isoform 3

All UniProt accessions (1): Q15120

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species.

Subunit / interactions. Homodimer. Interacts with the pyruvate dehydrogenase complex subunit DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3).

Subcellular location. Mitochondrion matrix.

Tissue specificity. Expressed in heart, skeletal muscle, spinal cord, as well as fetal and adult brain.

Disease relevance. Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905] A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activated by interaction with DLAT. Inhibited by AZD7545, dichloroacetate and radicicol.

Induction. Up-regulated in response to hypoxia. Up-regulated in response to fatty acids. Up-regulated by PPARD.

Similarity. Belongs to the PDK/BCKDK protein kinase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q15120-1	1	yes
Q15120-2	2

RefSeq proteins (2): NP_001135858, NP_005382* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003594	HATPase_dom	Domain
IPR005467	His_kinase_dom	Domain
IPR018955	BCDHK/PDK_N	Domain
IPR036784	AK/P_DHK_N_sf	Homologous_superfamily
IPR036890	HATPase_C_sf	Homologous_superfamily
IPR039028	BCKD/PDK	Family

Pfam: PF02518, PF10436

Enzyme classification (BRENDA)

• EC 2.7.11.2 — [pyruvate dehydrogenase (acetyl-transferring)] kinase (BRENDA: 19 organisms, 106 substrates, 260 inhibitors, 52 Km, 22 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.006–1.5	26
PYRUVATE DEHYDROGENASE	0.05–3.5	7
[PYRUVATE DEHYDROGENASE (ACETYL-TRANSFERRING)]	0.0006–0.02	6
MG2+	0.02	5
[PYRUVATE DEHYDROGENASE (LIPOAMIDE)]	—	0

Catalyzed reactions (Rhea)

• L-seryl-[pyruvate dehydrogenase E1 alpha subunit] + ATP = O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit] + ADP + H(+) (RHEA:23052)

UniProt features (51 total): helix 21, strand 11, sequence variant 4, binding site 4, mutagenesis site 2, turn 2, transit peptide 1, chain 1, splice variant 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

5 structures by resolution:

PDB	Title	Method	Resolution (Å)
1Y8O	Crystal structure of the PDK3-L2 complex	X-RAY DIFFRACTION	2.48
2PNR	Crystal Structure of the asymmetric Pdk3-l2 Complex	X-RAY DIFFRACTION	2.5
1Y8N	Crystal structure of the PDK3-L2 complex	X-RAY DIFFRACTION	2.6
2Q8I	Pyruvate dehydrogenase kinase isoform 3 in complex with antitumor drug radicicol	X-RAY DIFFRACTION	2.6
1Y8P	Crystal structure of the PDK3-L2 complex	X-RAY DIFFRACTION	2.63

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15120-F1	91.32	0.81

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Transferases, Kinases, Atypical kinases, Metabolic proteins, Predicted intracellular proteins, Disease related genes, Potential drug targets, Human disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): mitochondria; nucleoli

Antibody reliability (HPA): IH approved · IF supported

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4)

Position	Role
247–254	ATP
287	ATP
306–307	ATP
323–328	ATP

Post-translational modifications (1)

Type	Positions
N6-succinyllysine	278

Mutagenesis-validated functional residues (2)

Position	Phenotype
120	no effect on kinase activity; when associated with n-121.
121	no effect on kinase activity; when associated with h-120.

Function

Pathways and Gene Ontology

Reactome pathways

2 curated (TAS) of 8; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

8 pathways:

ID	Pathway	Evidence
R-HSA-204174	Regulation of pyruvate dehydrogenase (PDH) complex	curated
R-HSA-5362517	Signaling by Retinoic Acid	curated
R-HSA-1428517	Aerobic respiration and respiratory electron transport	—
R-HSA-1430728	Metabolism	—
R-HSA-70268	Pyruvate metabolism	—
R-HSA-9861718	Regulation of pyruvate metabolism	—
R-HSA-162582	Signal Transduction	—
R-HSA-9006931	Signaling by Nuclear Receptors	—

MSigDB gene sets: 359 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, SWEET_KRAS_ONCOGENIC_SIGNATURE, GOBP_CELLULAR_RESPONSE_TO_LIPID, CHUNG_BLISTER_CYTOTOXICITY_DN, MORF_BRCA1, GOBP_PEPTIDYL_SERINE_MODIFICATION, GOZGIT_ESR1_TARGETS_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ACETYL_COA_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_KETONE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS

GO Biological Process (9): regulation of pyruvate decarboxylation to acetyl-CoA (GO:0010510), regulation of glucose metabolic process (GO:0010906), peptidyl-serine phosphorylation (GO:0018105), peroxisome proliferator activated receptor signaling pathway (GO:0035357), cellular response to glucose stimulus (GO:0071333), cellular response to fatty acid (GO:0071398), hypoxia-inducible factor-1alpha signaling pathway (GO:0097411), regulation of reactive oxygen species metabolic process (GO:2000377), cellular response to stress (GO:0033554)

GO Molecular Function (8): protein kinase activity (GO:0004672), protein serine/threonine kinase activity (GO:0004674), pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740), ATP binding (GO:0005524), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

6 top-level categories:

Category	Pathways
Regulation of pyruvate metabolism	1
Signaling by Nuclear Receptors	1
Metabolism	1
Aerobic respiration and respiratory electron transport	1
Signal Transduction	1
Pyruvate metabolism	1

GO top-level categories

36 GO namespaces:

Category	Terms
pyruvate decarboxylation to acetyl-CoA	1
regulation of acyl-CoA biosynthetic process	1
glucose metabolic process	1
regulation of carbohydrate metabolic process	1
regulation of small molecule metabolic process	1
protein phosphorylation	1
nuclear receptor-mediated signaling pathway	1
intracellular glucose homeostasis	1
response to glucose	1
cellular response to hexose stimulus	1
response to fatty acid	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
intracellular signal transduction	1
cellular response to hypoxia	1
regulation of metabolic process	1
reactive oxygen species metabolic process	1
response to stress	1
cellular response to stimulus	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
protein kinase activity	1
protein serine/threonine kinase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
anion binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 12 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).

12 experimentally-supported GO terms:

GO term	NS	Evidence
cellular response to fatty acid	BP	mutant phenotype
hypoxia-inducible factor-1alpha signaling pathway	BP	mutant phenotype
peptidyl-serine phosphorylation	BP	direct assay
peroxisome proliferator activated receptor signaling pathway	BP	mutant phenotype
regulation of glucose metabolic process	BP	mutant phenotype
regulation of pyruvate decarboxylation to acetyl-CoA	BP	mutant phenotype
regulation of reactive oxygen species metabolic process	BP	mutant phenotype
mitochondrion	CC	direct assay
ATP binding	MF	direct assay
protein kinase activity	MF	direct assay
protein serine/threonine kinase activity	MF	direct assay
pyruvate dehydrogenase (acetyl-transferring) kinase activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,690 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PDK3	PDHA1	P08559	843
PDK3	SMPX	Q9UHP9	837
PDK3	ITGB1BP2	Q9UKP3	827
PDK3	PDP2	Q9P2J9	687
PDK3	DLD	P09622	605
PDK3	PDHX	O00330	595
PDK3	FOXO4	P98177	578
PDK3	PDPR	Q8NCN5	554
PDK3	HIF1A	Q16665	535
PDK3	LDHA	P00338	532
PDK3	PDP1	Q9P0J1	528
PDK3	PDHB	P11177	501
PDK3	DLAT	P10515	477
PDK3	PKM	P14618	473
PDK3	SLC2A1	P11166	456

IntAct

Human interaction partners of PDK3 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

5 partners by confidence:

Partner	Interaction type	MIscore	Records
DLAT	direct interaction	0.690	1
EGFR	physical association	0.550	2
PDHX	association	0.530	1
ECD	association	0.350	1
HSP90AA1	association	0.350	1

BioGRID (182 interactions; top human partners by supporting records): PDK1 (Affinity Capture-MS; 5 records), PDK4 (Affinity Capture-MS; 4 records), ACAD9 (Affinity Capture-MS; 3 records), CECR5 (Affinity Capture-MS; 3 records), CLPP (Proximity Label-MS; 3 records), DLAT (Affinity Capture-MS; 3 records), DLD (Affinity Capture-MS; 3 records), HSPD1 (Affinity Capture-MS; 3 records), PDHA1 (Affinity Capture-MS; 3 records), PDHB (Affinity Capture-MS; 3 records), PDK2 (Affinity Capture-MS; 3 records), CCT2 (Affinity Capture-MS; 2 records), CCT3 (Affinity Capture-MS; 2 records), CCT4 (Affinity Capture-MS; 2 records), CCT5 (Affinity Capture-MS; 2 records)

SIGNOR signaling

showing 2 of 5 signaling interactions:

A	Effect	B	Mechanism
PDK3	down-regulates	PDHA2	phosphorylation
PDK3	“down-regulates activity”	PDHA1	phosphorylation

Disease & clinical

Genetic variants

Variant evidence for PDK3: 314 ClinVar records (0 pathogenic / likely pathogenic); 3 GWAS associations.

ClinVar

314 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	111
Likely benign	82
Benign	39

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 43 predictions of 922):

Position(s)	Effect	Δscore	Sites
X:24465562–24465563	donor_loss	1.0000	5
X:24498827–24498828	acceptor_loss	1.0000	6
X:24498897	donor_gain	1.0000
X:24498901–24498902	donor_loss	1.0000	6
X:24498905	donor_loss	1.0000
X:24518931–24518932	acceptor_loss	1.0000	6
X:24519011–24519012	donor_loss	1.0000	4
X:24526275–24526276	donor_loss	1.0000	4
X:24527676–24527677	donor_loss	1.0000	5
X:24494884–24494885	donor_loss	0.9900	5

AlphaMissense

1,274 missense substitutions predicted likely pathogenic (of 2,661 scored), across 289 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M163	9	0.864	0.996
N251	8	0.996	0.999
D287	8	0.994	0.997
H119	8	0.984	0.995
F35	8	0.980	0.999
D388	8	0.979	0.994
F48	8	0.977	0.999
H168	8	0.976	0.994
F301	8	0.973	0.999
H240	8	0.969	0.997
F338	8	0.968	0.995
D152	8	0.965	0.997
D280	8	0.961	0.987
F150	8	0.960	0.998
F172	8	0.959	0.997
F154	8	0.944	0.998
F246	8	0.940	0.995
F108	8	0.927	0.996
F88	8	0.874	0.989
M126	8	0.851	0.998

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

5 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	3.47e-06
Breast Invasive Carcinoma (TCGA)	unfavorable	2.69e-05
Kidney Chromophobe (TCGA)	unfavorable	8.49e-05
Lung Adenocarcinoma (validation)	unfavorable	0.000127
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	0.00018

Disease associations

OMIM: gene MIM:300906 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
Charcot-Marie-Tooth disease X-linked dominant 6	Strong	X-linked	4

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease X-linked dominant 6	Definitive	XL

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (7 panels, 6 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

7 panels:

Panel	Rating
Hereditary neuropathy or pain disorder	green
Hypotonic infant	green
Leukodystrophy, childhood onset	green
Likely inborn error of metabolism	green
Paediatric disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green
Undiagnosed metabolic disorders	amber

Mondo (1): Charcot-Marie-Tooth disease X-linked dominant 6 (MONDO:0010479)

HPO phenotypes

27 phenotypes (HPO-id order):

HPO	Term
HP:0000407	Sensorineural hearing impairment
HP:0000762	Decreased nerve conduction velocity
HP:0001270	Motor delay
HP:0001288	Gait disturbance
HP:0001423	X-linked dominant inheritance
HP:0001761	Pes cavus
HP:0002166	Impaired vibration sensation in the lower limbs
HP:0002378	Hand tremor
HP:0002936	Distal sensory impairment
HP:0003236	Elevated circulating creatine kinase activity
HP:0003376	Steppage gait
HP:0003393	Thenar muscle atrophy
HP:0003438	Absent Achilles reflex
HP:0003482	EMG: axonal abnormality
HP:0003596	Middle age onset
HP:0003621	Juvenile onset
HP:0003677	Slowly progressive
HP:0006886	Impaired distal vibration sensation
HP:0007141	Sensorimotor neuropathy
HP:0007328	Impaired pain sensation
HP:0007340	Lower limb muscle weakness
HP:0008944	Distal lower limb amyotrophy
HP:0008954	Intrinsic hand muscle atrophy
HP:0009072	Decreased Achilles reflex
HP:0009830	Peripheral neuropathy
HP:0011463	Childhood onset
HP:0030237	Hand muscle weakness

GWAS associations

3 associations:

Study	Trait	p-value
GCST010725_32	Malaria	8e-7
GCST010725_100	Malaria	7e-6
GCST010725_16	Malaria	8e-6

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2096665 (PROTEIN FAMILY), CHEMBL3893 (SINGLE PROTEIN)

Drugs acting on a complex or family that includes this protein

Curated ChEMBL mechanism-of-action drugs whose target is a protein complex or family of ≤10 members that includes PDK3 — the drug acts on the assembly or class, not necessarily on this subunit alone.

1 drugs via a complex or family:

Drug	Target (ChEMBL)	Members	Max phase
SODIUM DICHLOROACETATE	Pyruvate dehydrogenase kinase	4	3

PharmGKB: 1 entry (CPIC guideline: no)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — PDHK family

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
VER-246608	Inhibition	7.4	pIC50

Binding affinities (BindingDB)

157 measured of 164 human assays (166 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
CHEMBL73068	IC50	7.1 nM
CHEMBL74582	IC50	8 nM
CHEMBL73204	IC50	8.4 nM
CHEMBL6188959	IC50	9 nM
CHEMBL75821	IC50	10 nM
CHEMBL73099	IC50	13 nM
CHEMBL4519504	IC50	14 nM
CHEMBL307687	IC50	15 nM
2-cyano-N-[(3R)-1-[3-ethyl-7-(ethylamino)-5-fluoro-2-oxo-indolin-3-yl]-3-piperidyl]-2-azaspiro[3.3]heptane-6-carboxamide	IC50	15 nM	US-20240140933: OXOINDOLINE COMPOUND FOR THE TREATMENT OF INFLAMMATORY DISEASES OR CANCER
4-[1-(2-hydroxyethyl)pyrazol-4-yl]-2-methyl-9-(trifluoromethyl)fluoren-9-ol	IC50	16 nM	US-8871934: Fluorene compound and pharmaceutical use thereof
CHEMBL75507	IC50	16 nM
CHEMBL450618	IC50	16 nM
CHEMBL306972	IC50	19 nM
CHEMBL72298	IC50	20 nM
CHEMBL308151	IC50	20 nM
CHEMBL4558837	IC50	20 nM
CHEMBL84231	IC50	21 nM
CHEMBL72567	IC50	23 nM
CHEMBL4092859	IC50	24 nM
CHEMBL4452536	IC50	24 nM
CHEMBL4587341	IC50	24 nM
CHEMBL4099635	IC50	26 nM
CHEMBL6192657	IC50	28 nM
CHEMBL306835	IC50	29 nM
CHEMBL73551	IC50	32 nM
CHEMBL72021	IC50	34 nM
CHEMBL72204	IC50	35 nM
CHEMBL4551410	IC50	42 nM
CHEMBL73100	IC50	47 nM
CHEMBL4513465	IC50	57 nM
CHEMBL74399	IC50	61 nM
CHEMBL316388	IC50	66 nM
CHEMBL415267	IC50	66 nM
CHEMBL73048	IC50	70 nM
CHEMBL306522	IC50	73 nM
CHEMBL93805	IC50	77 nM
CHEMBL306281	IC50	77 nM
CHEMBL70898	IC50	77 nM
CHEMBL82385	IC50	82 nM
CHEMBL76189	IC50	87 nM
CHEMBL70916	IC50	98 nM
CHEMBL5563199	IC50	109 nM
CHEMBL94231	IC50	110 nM
CHEMBL303468	IC50	110 nM
CHEMBL308156	IC50	110 nM
CHEMBL75001	IC50	113 nM
CHEMBL74949	IC50	115 nM
CHEMBL433391	IC50	120 nM
CHEMBL421116	IC50	126 nM
CHEMBL73191	IC50	130 nM

ChEMBL bioactivities

471 potent at pChembl≥5 of 496 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.30	IC50	5	nM	CHEMBL4519504
8.15	IC50	7.1	nM	CHEMBL73068
8.10	IC50	8	nM	CHEMBL74582
8.08	IC50	8.4	nM	CHEMBL73204
8.00	IC50	10	nM	CHEMBL3718383
8.00	IC50	10	nM	CHEMBL3719344
8.00	IC50	10	nM	CHEMBL3717579
8.00	IC50	10	nM	CHEMBL3716924
8.00	IC50	10	nM	CHEMBL3716176
8.00	IC50	10	nM	CHEMBL3719004
8.00	IC50	10	nM	CHEMBL3715313
8.00	IC50	10	nM	CHEMBL3716404
8.00	IC50	10	nM	CHEMBL3719305
8.00	IC50	10	nM	CHEMBL3717052
8.00	IC50	10	nM	CHEMBL3715598
8.00	IC50	10	nM	CHEMBL3714928
8.00	IC50	10	nM	CHEMBL3717436
8.00	IC50	10	nM	CHEMBL3717459
8.00	IC50	10	nM	CHEMBL3717764
8.00	IC50	10	nM	CHEMBL3718319
8.00	IC50	10	nM	CHEMBL3717613
8.00	IC50	10	nM	CHEMBL3715330
8.00	IC50	10	nM	CHEMBL3715072
8.00	IC50	10	nM	CHEMBL3717025
8.00	IC50	10	nM	CHEMBL3715512
8.00	IC50	10	nM	CHEMBL3716740
8.00	IC50	10	nM	CHEMBL3715842
8.00	IC50	10	nM	CHEMBL3715757
8.00	IC50	10	nM	CHEMBL3717836
8.00	IC50	10	nM	CHEMBL3715049
8.00	IC50	10	nM	CHEMBL3715972
8.00	IC50	10	nM	CHEMBL3715771
8.00	IC50	10	nM	CHEMBL3716746
8.00	IC50	10	nM	CHEMBL3717827
8.00	IC50	10	nM	CHEMBL3717940
8.00	IC50	10	nM	CHEMBL3714889
8.00	IC50	10	nM	CHEMBL3717799
8.00	IC50	10	nM	CHEMBL3719348
8.00	IC50	10	nM	CHEMBL3715964
8.00	IC50	10	nM	CHEMBL3719035
8.00	IC50	10	nM	CHEMBL3719333
8.00	IC50	10	nM	CHEMBL3715044
8.00	IC50	10	nM	CHEMBL3719351
8.00	IC50	10	nM	CHEMBL3714823
8.00	IC50	10	nM	CHEMBL3716865
8.00	IC50	10	nM	CHEMBL3715674
8.00	IC50	10	nM	CHEMBL3717530
8.00	IC50	10	nM	CHEMBL75821
7.89	IC50	13	nM	CHEMBL73099
7.82	IC50	15	nM	CHEMBL307687

PubChem BioAssay actives

141 with measured affinity, of 270 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
N-[4-(dimethylcarbamoyl)phenyl]-2,4-dihydroxy-N-[(5-iodofuran-2-yl)methyl]benzamide	1604075: Inhibition of PDHK3 (unknown origin) by radiometric biochemical kinase assay	ic50	0.0050	uM
(2R)-N-[2-chloro-4-(cyclopropylmethylsulfamoyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0071	uM
(2R)-N-[2-chloro-4-(prop-2-enylsulfamoyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0080	uM
(2R)-N-[4-[(3-aminocyclohexyl)sulfamoyl]-2-chlorophenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0084	uM
(2R)-N-[2-chloro-4-(2-morpholin-4-ylethylsulfamoyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0100	uM
(2R)-N-[2-chloro-4-(2-methylpropylsulfamoyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0130	uM
(2S)-2-[[3-chloro-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]benzoyl]amino]-4-phenylbutanoic acid	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0150	uM
(2R)-N-[2-chloro-4-[3-(2-oxopyrrolidin-1-yl)propylsulfamoyl]phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0160	uM
(2R)-N-[4-[[4-(2-aminoethyl)phenyl]sulfonylsulfamoyl]-2-chlorophenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0160	uM
4-[(2R,5S)-2,5-dimethyl-4-[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]piperazine-1-carbonyl]benzonitrile	162832: In vitro inhibitory activity against Pyruvate dehydrogenase kinase by primary enzymatic assay	ic50	0.0165	uM
(2R)-N-[2-chloro-4-(3-ethoxypropylsulfamoyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0190	uM
(2R)-N-[2-chloro-4-(pyridin-2-ylmethylsulfamoyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0200	uM
(2R)-N-[2-chloro-4-(3,3-dimethylbutylsulfamoyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0200	uM
benzyl (2R)-2-methyl-4-[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]piperazine-1-carboxylate	162832: In vitro inhibitory activity against Pyruvate dehydrogenase kinase by primary enzymatic assay	ic50	0.0210	uM
(2R)-N-[4-(3-aminopyrrolidin-1-yl)sulfonyl-2-chlorophenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0230	uM
N-[4-(2-chloro-5-methylpyrimidin-4-yl)phenyl]-N-[[4-[[(2,2-difluoroacetyl)amino]methyl]phenyl]methyl]-2,4-dihydroxybenzamide	1604075: Inhibition of PDHK3 (unknown origin) by radiometric biochemical kinase assay	ic50	0.0260	uM
(2R)-N-[2-chloro-4-(3-hydroxypropylsulfamoyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0290	uM
(2R)-N-[2-chloro-4-[2-(dimethylamino)ethylsulfamoyl]phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0320	uM
sodium (2S)-2-[[3-chloro-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]benzoyl]amino]-3-phenylpropanoate	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0340	uM
(2R)-N-[2-chloro-4-[2-(4-fluorophenyl)ethylsulfamoyl]phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0350	uM
3-chloro-N-(3-hydroxypropyl)-N-methyl-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]benzamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0470	uM
(2R)-N-(2-chloro-4-piperazin-1-ylsulfonylphenyl)-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162832: In vitro inhibitory activity against Pyruvate dehydrogenase kinase by primary enzymatic assay	ic50	0.0550	uM
N-[(5-bromofuran-2-yl)methyl]-N-[4-(dimethylcarbamoyl)phenyl]-2,4-dihydroxybenzamide	1604075: Inhibition of PDHK3 (unknown origin) by radiometric biochemical kinase assay	ic50	0.0590	uM
(2R)-N-[2-chloro-4-(diethylsulfamoyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0610	uM
N-[(5-bromo-1,3-thiazol-2-yl)methyl]-N-[4-(dimethylcarbamoyl)phenyl]-2,4-dihydroxybenzamide	1604075: Inhibition of PDHK3 (unknown origin) by radiometric biochemical kinase assay	ic50	0.0640	uM
(2R)-N-[2-chloro-4-[3-(diethylamino)propylsulfamoyl]phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0660	uM
N-[4-(dimethylcarbamoyl)phenyl]-N-(furan-2-ylmethyl)-2,4-dihydroxybenzamide	1604075: Inhibition of PDHK3 (unknown origin) by radiometric biochemical kinase assay	ic50	0.0670	uM
(2R)-N-(2-chloro-4-methylsulfonylphenyl)-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0700	uM
(2R)-N-[2-chloro-4-(4-pyridin-2-ylpiperazin-1-yl)sulfonylphenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0730	uM
3-chloro-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]benzenesulfonyl fluoride	162832: In vitro inhibitory activity against Pyruvate dehydrogenase kinase by primary enzymatic assay	ic50	0.0770	uM
(2S)-2-[[3-chloro-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]benzoyl]amino]-3-(4-phenylphenyl)propanoic acid	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0770	uM
3-chloro-4-[(3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl)amino]benzenesulfonyl fluoride	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0770	uM
4-[(2R)-2-methyl-4-[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]piperazine-1-carbonyl]benzonitrile	162832: In vitro inhibitory activity against Pyruvate dehydrogenase kinase by primary enzymatic assay	ic50	0.0790	uM
N-[(4-bromothiophen-2-yl)methyl]-N-[4-(dimethylcarbamoyl)phenyl]-2,4-dihydroxybenzamide	1604075: Inhibition of PDHK3 (unknown origin) by radiometric biochemical kinase assay	ic50	0.0800	uM
(2R)-1-[(2S,5R)-4-benzyl-2,5-dimethylpiperazin-1-yl]-3,3,3-trifluoro-2-hydroxy-2-methylpropan-1-one	162832: In vitro inhibitory activity against Pyruvate dehydrogenase kinase by primary enzymatic assay	ic50	0.0820	uM
3-chloro-N-(3-hydroxypropyl)-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]benzamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0870	uM
N-[(5-bromothiophen-2-yl)methyl]-N-[4-(dimethylcarbamoyl)phenyl]-2,4-dihydroxybenzamide	1604075: Inhibition of PDHK3 (unknown origin) by radiometric biochemical kinase assay	ic50	0.0900	uM
N-[(2-bromo-1,3-thiazol-5-yl)methyl]-N-[4-(dimethylcarbamoyl)phenyl]-2,4-dihydroxybenzamide	1604075: Inhibition of PDHK3 (unknown origin) by radiometric biochemical kinase assay	ic50	0.0900	uM
3-chloro-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]benzoic acid	162832: In vitro inhibitory activity against Pyruvate dehydrogenase kinase by primary enzymatic assay	ic50	0.0900	uM
N-[2-chloro-4-(2-methylpropylsulfamoyl)phenyl]-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.0980	uM
N-[(5-cyanothiophen-2-yl)methyl]-N-[4-(dimethylcarbamoyl)phenyl]-2,4-dihydroxybenzamide	1604075: Inhibition of PDHK3 (unknown origin) by radiometric biochemical kinase assay	ic50	0.0980	uM
methyl (2S)-2-[[3-chloro-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]benzoyl]-methylamino]-3-(1H-indol-3-yl)propanoate	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.1100	uM
(2R)-N-(4-benzoyl-2-chlorophenyl)-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162832: In vitro inhibitory activity against Pyruvate dehydrogenase kinase by primary enzymatic assay	ic50	0.1100	uM
(2R)-N-[2-chloro-4-(4-pyridin-2-ylpiperazine-1-carbonyl)phenyl]-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.1100	uM
N-(4-benzoyl-2-chlorophenyl)-3,3,3-trifluoro-2-hydroxy-2-methylpropanamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.1130	uM
methyl 3-chloro-4-[(3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl)amino]benzoate	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.1150	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148967: Binding affinity to human PDK3 incubated for 45 mins by Kinobead based pull down assay	kd	0.1192	uM
methyl 3-chloro-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]benzoate	162832: In vitro inhibitory activity against Pyruvate dehydrogenase kinase by primary enzymatic assay	ic50	0.1200	uM
4-[3-chloro-4-[[(2R)-3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl]amino]phenyl]sulfonyl-N,N-dimethylbenzamide	2096660: Inhibition of N-terminal GST-tagged recombinant human full length PDK3 (1 to 406 residues) expressed in baculovirus infected Sf9 cells using PDHA1 as substrate incubated for 1 hrs in presence of ATP by ADP-Glo luminescence assay	ic50	0.1205	uM
3-chloro-N-hexyl-4-[(3,3,3-trifluoro-2-hydroxy-2-methylpropanoyl)amino]benzamide	162971: Inhibition of porcine pyruvate dehydrogenase kinase (PDHK)in a primary enzymatic assay	ic50	0.1260	uM

CTD chemical–gene interactions

62 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	4
sodium arsenite	decreases expression, increases expression	3
Acetaminophen	decreases expression, increases expression	3
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression	2
Nickel	decreases expression	2
Oxygen	decreases reaction, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
VER-246608	decreases activity	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	affects cotreatment, increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
1,10-phenanthroline	increases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dimethylarsinous acid	decreases expression	1
gypenoside	decreases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Grape Seed Proanthocyanidins	increases expression, affects cotreatment	1

ChEMBL screening assays

53 unique, capped per target: 52 binding, 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3721114	Binding	Inhibition of pyruvate dehydrogenase kinase (unknown origin) assessed as reduction in E1 phosphorylation incubated for 1 hr by DELFIA method	Tetrahydroisoquinoline compounds and their use as pyruvate dehydrogenase kinase inhibitors
CHEMBL767695	Functional	In vivo inhibion of pyruvate dehydrogenase kinase, increased oxidation of lactate	(R)-3,3,3-Trifluoro-2-hydroxy-2-methylpropionamides are orally active inhibitors of pyruvate dehydrogenase kinase. — *J Med Chem*

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TC83	HAP1 PDK3 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

59 trials:

NCT	Phase	Status	Title
NCT04762758	Phase 3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT00271635	Phase 2	COMPLETED	Ascorbic Acid Treatment in CMT1A Trial (AATIC)
NCT01401257	Phase 2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT02561702	Phase 2	COMPLETED	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
NCT02967679	Phase 2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT03124459	Phase 2	TERMINATED	Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
NCT03254199	Phase 2	TERMINATED	A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
NCT03943290	Phase 2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT05777226	Phase 2	UNKNOWN	Research of SORD-CMT Natural History and Epalrestat Treatment
NCT06482437	Phase 2	COMPLETED	Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
NCT01289704	Phase 2/3	UNKNOWN	Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT00541164	Phase 1/2	COMPLETED	Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
NCT05361031	Phase 1/2	COMPLETED	The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
NCT07223632	Phase 1/2	ACTIVE_NOT_RECRUITING	Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
NCT00149045	Not specified	COMPLETED	Follow up and Observation of Charcot Marie Tooth Disease in Families
NCT01193075	Not specified	RECRUITING	Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
NCT01203085	Not specified	COMPLETED	Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
NCT01455623	Not specified	COMPLETED	Development and Validation of a Disability Severity Index for CMT
NCT01918826	Not specified	COMPLETED	Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs
NCT02001038	Not specified	COMPLETED	Survey of Current Management of Orthopaedic Complications in CMT Patients
NCT02011204	Not specified	COMPLETED	Study of Electrical Impedance Myography (EIM) in ALS
NCT02194010	Not specified	COMPLETED	Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
NCT02429947	Not specified	COMPLETED	An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
NCT02532244	Not specified	COMPLETED	Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02788734	Not specified	COMPLETED	Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies
NCT02979145	Not specified	UNKNOWN	Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03460951	Not specified	COMPLETED	Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC)
NCT03715283	Not specified	COMPLETED	Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care
NCT03782883	Not specified	COMPLETED	The Impact of Charcot-Marie-Tooth Disease in the Real World
NCT03810508	Not specified	TERMINATED	A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
NCT03966287	Not specified	COMPLETED	Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
NCT04010188	Not specified	RECRUITING	A Registered Cohort Study on Charcot-Marie-Tooth Disease
NCT04283175	Not specified	COMPLETED	Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular Patients
NCT04461613	Not specified	UNKNOWN	Physical Activity in Persons With Charcot-Marie-Tooth: Developing a Measurement Instrument
NCT04786522	Not specified	COMPLETED	Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease
NCT04967716	Not specified	UNKNOWN	Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
NCT04980807	Not specified	COMPLETED	Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls
NCT05011006	Not specified	TERMINATED	NT-3 Levels and Function in Individuals With CMT
NCT05827419	Not specified	TERMINATED	Hearing and Balance Disorders in Peripheral Neuropathy
NCT05902351	Not specified	RECRUITING	Natural History Study for Charcot Marie Tooth Disease
NCT06203093	Not specified	UNKNOWN	Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for IPSC Generation and Biobanking
NCT06666816	Not specified	RECRUITING	Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases
NCT06708468	Not specified	RECRUITING	Personalized Training for People With Rare Neuromuscular Disorders
NCT06794489	Not specified	RECRUITING	Longitudinal Biomarkers With Selected Outcome Measures In CMT
NCT06808581	Not specified	COMPLETED	EVALUATION OF SERUM INFLAMMATORY CYTOKINE CONCENTRATION IN HEREDITARY SENSITIVOMOTOR NEUROPATHIES
NCT06881979	Not specified	RECRUITING	High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND Project
NCT06945835	Not specified	COMPLETED	High Intensity Exercise and Improving Physical Activity Among People With Neurologic Dysfunction
NCT07038239	Not specified	RECRUITING	Genotype/Phenotype Correlation of MORC2 Mutations
NCT07072676	Not specified	ENROLLING_BY_INVITATION	The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.
NCT07136844	Not specified	RECRUITING	Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
NCT07152197	Not specified	RECRUITING	Effects of Resistance Exercises in Hereditary Sensory-Motor Neuropathy (Charcot-Marie-Tooth Disease)
NCT07188415	Not specified	RECRUITING	CMT Gait, Mobility, Balance - AOFAS Grant
NCT07432035	Not specified	NOT_YET_RECRUITING	Walking Function Outcomes Following Surgical Correction With Rehabilitation Versus Physical Therapy Alone in Charcot-Marie-Tooth Disease: A Bidirectional Cohort Study
NCT07476365	Not specified	RECRUITING	A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
NCT07478172	Not specified	RECRUITING	Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
NCT07570446	Not specified	RECRUITING	AUTONOMOUS DISORDERS IN CMT
NCT07570459	Not specified	RECRUITING	TREMOR IN CHARCOT-MARIE-TOOTH

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for PDK3 across ~30M SureChEMBL compounds — explore on Sugi Predict.